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1.
An Integrated Phenotypic and Genotypic Approach Reveals a High-Risk Subtype Association for EBF3 Missense Variants Affecting the Zinc Finger Domain.
Ann Neurol
; 92(1): 138-153, 2022 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-35340043
2.
PRUNE1 c.933G>A synonymous variant induces exon 7 skipping, disrupts the DHHA2 domain, and leads to an atypical NMIHBA syndrome presentation: Case report and review of the literature.
Am J Med Genet A
; 188(6): 1868-1874, 2022 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-35194938
3.
Dihydroquinazolines enhance 20S proteasome activity and induce degradation of α-synuclein, an intrinsically disordered protein associated with neurodegeneration.
Bioorg Med Chem Lett
; 36: 127821, 2021 03 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-33513387
4.
The evidence is mounting: Insurance coverage disruptions lead to worse outcomes among children diagnosed with cancer.
Pediatr Blood Cancer
; 71(5): e30924, 2024 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-38379182
5.
Triflic anhydride mediated synthesis of 3,4-dihydroquinazolines: a three-component one-pot tandem procedure.
Org Biomol Chem
; 17(34): 7995-8000, 2019 08 28.
Artículo
en Inglés
| MEDLINE | ID: mdl-31408069
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